Variant report

Variant	rs1442732
Chromosome Location	chr11:10141219-10141220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10458929	0.92[ASN][1000 genomes]
rs10500715	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs10500717	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.87[ASN][1000 genomes]
rs10743129	0.83[ASN][1000 genomes]
rs10770079	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10770092	0.89[ASN][1000 genomes]
rs10840330	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10840333	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10840334	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10840347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10840348	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840352	0.87[ASN][1000 genomes]
rs10840359	0.89[ASN][1000 genomes]
rs10840361	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10840362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10840370	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11042558	1.00[CEU][hapmap]
rs11042574	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11042589	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs11042590	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs11042591	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11042592	1.00[EUR][1000 genomes]
rs11042604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[ASN][1000 genomes]
rs11042605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042606	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11042610	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs11042624	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11042630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042634	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042635	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042639	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11042645	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11042647	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042669	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes]
rs11530489	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11530492	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12221716	0.90[EUR][1000 genomes]
rs12222953	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12283105	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12575719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1372807	0.87[CHB][hapmap];0.88[JPT][hapmap]
rs16907368	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs16907396	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs2403226	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2403227	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2403229	0.80[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs4478985	0.89[ASN][1000 genomes]
rs4529876	0.86[ASN][1000 genomes]
rs4576815	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs4625455	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs4909917	0.80[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs4910086	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs4910118	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs57420335	0.90[EUR][1000 genomes]
rs59757006	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7106914	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs7114303	0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7121617	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7938788	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7946995	0.92[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1039636	chr11:10126747-10280570	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1036041	chr11:10131018-10212202	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1442732	ACTG2	trans	brain	seeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10120400-10142800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:10122200-10144200	Weak transcription	Left Ventricle	heart
3	chr11:10122200-10156400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:10122800-10142600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:10123200-10156400	Weak transcription	Fetal Intestine Small	intestine
6	chr11:10126200-10143000	Weak transcription	Ovary	ovary
7	chr11:10131200-10144200	Weak transcription	Psoas Muscle	Psoas
8	chr11:10131400-10142800	Weak transcription	Fetal Brain Male	brain
9	chr11:10131800-10143600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:10132200-10143000	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:10136800-10143000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:10137200-10161800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:10138200-10142200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:10138200-10142200	Enhancers	Adipose Nuclei	Adipose
15	chr11:10138400-10143000	Weak transcription	NHEK	skin
16	chr11:10138600-10141800	Enhancers	Osteobl	bone
17	chr11:10139000-10144200	Enhancers	Hela-S3	cervix
18	chr11:10139800-10142000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:10139800-10143400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:10139800-10144200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:10139800-10144400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:10140000-10142200	Enhancers	NHDF-Ad	bronchial
23	chr11:10140000-10143400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:10140000-10143400	Weak transcription	HMEC	breast
25	chr11:10140000-10143600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:10140000-10143800	Weak transcription	A549	lung
27	chr11:10140000-10144000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:10140000-10144200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:10140000-10144200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:10140000-10144200	Weak transcription	HSMM	muscle
31	chr11:10140000-10144200	Weak transcription	NH-A	brain
32	chr11:10140000-10156200	Weak transcription	Fetal Lung	lung
33	chr11:10140600-10141600	Weak transcription	HepG2	liver
34	chr11:10140600-10144000	Weak transcription	HSMMtube	muscle
35	chr11:10140800-10143400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:10141200-10141800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr11:10141200-10141800	Weak transcription	NHLF	lung
38	chr11:10141200-10143600	Weak transcription	Muscle Satellite Cultured Cells	--

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